Clinical Medicine Insights. Case Reports最新文献

Tuberous sclerosis complex (TSC) is a rare multisystemic neurocutaneous syndrome with a wide spectrum of clinical manifestations. We present a case of a 14-year-old adolescent female who presented with a history of facial angiofibromas since the age of 8 months. Physical examination was remarkable for multiple angiofibromas on the face, and other multiple cutaneous manifestations of TSC. MRI of the head, and abdomen revealed cortical tubers, multiple bilateral periventricular and subependymal nodular lesions, calcifications, and bilateral kidney enlargement with multiple bilateral renal angiomyolipomas of varying sizes in a background of bilateral polycystic kidneys, MRI of the chest was unremarkable. A diagnosis of TSC was made using the clinical diagnostic criteria which consist of major and minor features. A diagnosis using genetic studies could not be made due to a lack of resources. Management was multidisciplinary and regular monitoring every 6 months will be required to monitor disease progression and manage complications as they arise. This case illustrates the multidisciplinary approach needed to address the diverse clinical manifestations of TSC and the diagnostic challenges, treatment limitations, and psychological impact of TSC in low-resource settings like Zambia where access to advanced therapies is limited.

Background: Chronic exfoliative cheilitis is an inflammatory condition of the lips that involves exfoliation of the superficial layers of the lip with continuous peeling, ulceration, and exfoliation. Chronic exfoliative cheilitis can lead to social and psychosocial problems.

Case presentation: A 73-year-old diabetic male presented with a lip lesion showing continuous ulceration, crusting, and peeling of the lower lip. It was a spontaneous complaint that had its onset 6 months ago and has constantly evolved. The medical history revealed controlled diabetes mellitus while the social and family histories showed no marked findings. After a careful history, clinical examination, and laboratory investigations with the exclusion of the possible etiologic factors of cheilitis, the patient was diagnosed with chronic exfoliative cheilitis with unknown etiology. Then, the patient was prescribed topical steroids, and he was advised for continuous follow-up visits.

Conclusion: Diagnosing chronic cheilitis is challenging and requires careful history, clinical examination, and laboratory investigation, with continuous follow-up to improve the patient's quality of life. Further research is needed to better understand and treat these cases.

Vitamin D deficiency is a significant public health concern that affects bone health and muscle function in children, especially in developing countries. The COVID-19 pandemic has intensified this issue because lockdowns have reduced sunlight exposure. We report a rare case of a 13-year-old Indian boy who developed severe proximal myopathy induced by vitamin D deficiency during the pandemic. The patient presented with generalized body aches, progressive lower limb weakness, difficulty walking, waddling gait, and a positive Gower's sign. Laboratory tests revealed severe hypovitaminosis D (25[OH]D level, 3.8 ng/ml), hypocalcemia, hypophosphatemia, elevated parathyroid hormone, and elevated alkaline phosphatase levels. Electromyography and nerve conduction study results were normal. The patient was diagnosed with vitamin D deficiency-induced proximal myopathy and osteomalacia, likely due to reduced sunlight exposure, inadequate dietary intake, and obesity. The treatment involved high-dose vitamin D supplementation, oral calcium, lifestyle modifications, and a structured physiotherapy program focusing on resistance training and functional mobility exercises. Despite biochemical normalization after 2 months, significant symptomatic improvement was achieved only after intensifying physiotherapy. By 7 months, the patient had fully recovered muscle strength, achieved normal gait, and maintained normal follow-up laboratory values. This case emphasizes the importance of considering vitamin D deficiency in children with muscle weakness during periods of limited sunlight exposure, and highlights the need for a multidisciplinary approach for effective management and full functional recovery.

Introduction: Ascaris lumbricoides is a common helminthic infection characterized by fecal-oral route of transmission. Commonly, it affects the gastrointestinal tract. However, in significantly rare cases, it can affect unexpected body regions, such as biliary tree, pancreas, and the lung.

Case presentation: A 68-year-old female patient underwent PleurX tube insertion due to malignant pleural effusion. On the third week of insertion, she complained of itching and pain at the site of insertion, a grayish-white worm was visualized at the insertion site. Ascaris lumbricoides was identified by microbiological examination. She received 400 mg of albendazole.

Conclusion: Our case describes a rare clinical situation of pleural ascariasis, emphasizing the importance of remaining aware of this rare complication of ascariasis.

Background: Drug-induced acute pancreatitis is a rare condition occurs at an incidence rate of 0.1-1.4% and represents a diagnostic challenge. TNFα inhibitors specially adalimumab is very rarely reported in the literature, primarily through case reports, as a potential cause of acute pancreatitis.

Case presentation: Our case report presents a case of a 23-year-old patient followed for Crohn disease in whom a diagnosis of acute pancreatitis induced by adalimumab was made. This diagnosis was confirmed after the elimination of other possible etiologies, and notably by the recurrence of pancreatitis after Adalimumab rechallenge. The occurrence of acute pancreatitis induced by TNFα inhibitors exposes to the risk of pancreatitis with other drugs in this class, hence the need to switch to another therapeutic class, which was Ustekinumab in our case.

Conclusion: Acute pancreatitis is an unusual complication of treatment with Adalimumab. Through our experience, based on solid scientific data, we want to draw the attention of clinicians to the reality of this complication. It should be considered in any patient on TNFα inhibitors who presents with acute pancreatitis without an obvious cause.

The respiratory impact of e-cigarette usage, also known as vaping, emerged as a significant healthcare issue in 2019. This concern arose due to the sharp rise in cases of e-cigarette or vaping-associated lung injury (EVALI) among adolescents and young adults. Now, systemic manifestations have been described. We present the case of a 39-year-old male patient who had been vaping for 5 years and developed EVALI associated with multiple severe complications, including acute myocardial infarction, metabolic acidosis, acute kidney injury and sepsis-like syndrome, requiring hospitalization in the critical care unit. Every day, reports of patients with systemic complications due to the use of e-cigarettes are becoming more frequent. Therefore, it is crucial for clinicians to be aware of this condition and to consider whether vaping truly constitutes a safe alternative to combat smoking.

This study reports a rare case of immune-complex mediated mesangial proliferative glomerulonephritis (ICGN) with a full-house pattern in a 56-year-old Japanese man, observed during the treatment of immune thrombocytopenic purpura (ITP). Because of persistent complement deficiency and worsening of kidney function, he was treated with prednisolone, and his urinary findings improved markedly. However, as the complement titers were still low, mycophenolate mofetil was also prescribed, which normalized complement levels. Production of anti-platelet antibodies is considered to be involved in the etiology of ITP. Although little is known about the mechanism by which ITP causes glomerulonephritis, including ICGN, glomerular deposition of circulating immune complexes synthesized by antiplatelet antibodies may be involved. This case shows full-house nephropathy, suggesting the involvement of immune complexes, which in turn, suggested an association between ITP and glomerulonephritis.

Leiomyomas are uncommon tumors of the gastrointestinal system, representing around 0.03% to 0.05% of all rectal tumors. They tend to have a benign biological behavior and are mostly asymptomatic. When leiomyomas are large in size, they can cause symptoms and complications, including abdominal pain, perforation, intestinal obstruction, and bleeding. We herein present a case of a 57-year-old male patient presenting for colonoscopic evaluation following a positive screening with a fecal occult blood test. The patient was found to have a 10 mm pedunculated polyp at the level of the recto-sigmoid junction, which was removed by hot snare polypectomy and was found to have spindle cells that were positive for desmin, consistent with the rare diagnosis of recto-sigmoid leiomyoma. That being said, this case evokes a rare entity that endoscopists should keep in mind when approaching a recto-colonic polyp.

Background: Morphea is a skin condition marked by erythematous and hardened inflammatory lesions that can progress to atrophic and sclerotic plaques. In this case report, we present a case of a pregnant woman who showed morphea presentation.

Case presentation: A 37-year-old G₂P₁L₁ woman with a gestational age of 32 weeks and 2 days was referred to the hospital with complaints of swelling, pain, and erythema in both legs for the past week, without any obstetric complaints. Upon initial examination at the time of admission, swelling, erythema, warmth in both legs, ecchymotic lesions, and non-pitting edema were observed. Biometry and color Doppler ultrasound for evaluation of fetus growth was normal. Skin examination revealed mild erythema, warmth, and purpura and petechiae in some areas, with an orange peel appearance and firm texture on palpation. Leg lesion skin punch biopsy reported a sclerodermoid reaction pattern and findings more compatible with morphea. The patient was managed for morphea during pregnancy. However, at 38 weeks and 6 days of gestation, due to worsening symptoms and spreading stiffness to the groin area, and the need for initiating pulse corticosteroids and mycophenolate mofetil (CellCept), the patient was re-admitted for cesarean section. In the follow-up assessment, ultrasound findings were normal, IGRA, HIV antibody, HCV antibody, HBC antigen, and HBS antigen were negative, and no edema or inflammation was seen in the patient.

Conclusions: In conclusion, although our patient recovered without specific treatment, predicting the recurrence or worsening of morphea in future pregnancies is challenging.

Introduction: Ewing sarcoma is a rare and highly aggressive malignancy, mostly involving the axial skeleton. Ewing sarcoma usually affects children and young adults under 20. Usually presenting as a painful swelling and discomfort worsening over time.

Case report: We present a case of a 19-year-old female with no known co-morbidities presenting in the Emergency Department with complaints of fever and backache for the past 2 weeks and bilateral lower limb weakness for more than a week. She was started on steroids and broad-spectrum antibiotics and packed cell volume due to low hemoglobin. The screening MRI of the cervical and dorsal spine without contrast revealed signal abnormalities in the vertebral bodies at multiple levels (C2, C5, C6, C7, T1, and T3), as well as within the spinous processes and interspinous musculature. Further evaluation with contrast-enhanced MRI was recommended. The contrast-enhanced MRI showed straightening of the cervical and dorsal spine due to muscular spasm. Additionally, there were small soft tissue components in the left paravertebral region at the level of D3, extending into the epidural space, and epidural components encasing the thecal sac at the levels of D5, D9, and D10 suggestive of neoplastic lesions, most likely metastasis. The morphological and immunohistochemical correlation established the diagnosis of Ewing Sarcoma of the left thigh with nodal, para-spinal, and soft tissue metastatic lesions.

Conclusion: Ewing Sarcoma is generally reported in the pediatric population and may come into clinical view based on a plethora of signs and symptoms. Appropriate imaging in the form of X-rays, CT scans, and MRI must be employed to correctly diagnose, and stage the condition.